Test Overview
Test Methodology

Cytogenetic quantitation of chromosomal breakage in response to diepoxybutane (DEB) and mitomycin C (MMC).

Test Usage

Diagnosis of Fanconi Anemia (FA)

Reference Range *

Interpretive report provided.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Test Details
Days Set Up
Tuesday, Friday
Analytic Time

2 - 3 weeks

Soft Order Code
SO
Synonyms
  • Fanconi Anemia
  • DEB (diepoxybutane) Test
  • MMC (mitomycin C) Test
Laboratory
Sendout
Reference Laboratory
Beth Israel Deaconess Medical Center
Section
Special Testing
Specimen Requirements
Collection Instructions

Collect specimen in a green top tube (sodium heparin). Send 20 mL (minimum 3 mL) intact specimen at room temperature. Skin biopsy specimens are also acceptable. Specimens are accepted Monday, and Thursday only (specimen must be received by Sendouts by 5 pm). Specimen must be accompanied by a Beth Israel Deaconess req form (available from Sendouts) signed by the ordering physician.

Special Handling

Do not collect in lithium heparin; USE sodium heparin only

Normal Volume

20 mL whole blood

Minimum Volume

3 mL whole blood

Storage Temperature
STRICT ambient
Rejection Criteria
Specimen collected in lithium heparin
Additional Information

Test sent to Beth Israel Deaconess Medical Center Cytogenetics Lab.

Billing
CPT Code
88249, 88230
Fee Code
21599
NY State Approved
No